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Lesson 7: Who Should Pay Funding Research on Rare Genetic Diseases

Place of Employment:Seattle Children's Research HospitalType of Work:Diagnosis and treatment of epilepsy, neurogenetic disorders, and neurometabolic disorders (in particular mitochondrial disease). Pediatric Neurologist Russell Saneto, DO, PhD. I count it a privilege to diagnosis and treat patie

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Lesson 7: Who Should Pay Funding Research on Rare Genetic Diseases

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    1. Lesson 7: Who Should Pay? Funding Research on Rare Genetic Diseases

    2. Place of Employment: Seattle Children’s Research Hospital Type of Work: Diagnosis and treatment of epilepsy, neurogenetic disorders, and neurometabolic disorders (in particular mitochondrial disease) Pediatric Neurologist Russell Saneto, DO, PhD

    3. Meet Adam Kinnear Adam is from England, and is the only child in the United Kingdom with a rare genetic disease called Leigh’s disease. Adam is shown here with his father, Michael, who organized a bike ride in 2008 to raise money for Leigh’s disease research. Lesson 6 Slide 1Lesson 6 Slide 1

    4. What is Leigh’s Disease? A Type of Subacute Necrotizing Encephalomyelopathy (SNEM) Subactute = Symptoms start rapidly Nectrotizing = Regions of the brain die Encephalo = Brain Myelopathy = Spinal Cord Lesson 6 Slide 2Lesson 6 Slide 2

    5. Understanding Leigh’s Disease: The Importance of ATP Mitochondria are found in almost all cells and make ATP. ATP synthesis involves the electron transport chain, which includes Complex IV and COI. Mutations cause less Complex IV to be made, and therefore less ATP, and cells starve. Lesson 6 Slide 3Lesson 6 Slide 3

    6. Rare Genetic Diseases Affect Many People and Families The National Institutes of Health in the USA has an Office of Rare Diseases Research. “Rare” is defined as a disease which effects fewer than 1 in every 200,000 people: USA Population = 309 million (2009) Each disease affects fewer than 1545 people in the USA There are thousands of different rare genetic diseases known. Lesson 6 Slide 5Lesson 6 Slide 5

    7. Bioethical Principles Respect for Persons Respecting the inherent worth of an individual and his or her autonomy Maximize Benefits/Minimize Harm Beneficence/Nonmaleficence The most good for the most people Justice Being fair; giving what is “owed” or “due” Distributing benefits/burdens equitably across a group of individuals

    8. Place of Employment: Seattle Children’s Research Hospital Type of Work: Diagnosis and treatment of epilepsy, neurogenetic disorders, and neurometabolic disorders (in particular mitochondrial disease) Pediatric Neurologist Russell Saneto, DO, PhD

    9. Careers in the Spotlight: Pediatric Neurologist

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